A12V (p.Ala12Val) variant of NFKBIA (NF-kappa-B inhibitor alpha)
A12V (p.Ala12Val) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
A12V (p.Ala12Val) variant details
- p.Ala12Val
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.42
- MetaLR 0.16
- MetaSVM -0.81
- CADD 24.20
- PolyPhen-2 0.07
- SIFT 0.42
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available